| 11542819 | CV257198 | single nucleotide variant | NM_004917.5(KLK4):c.*19C>T | not provided [RCV001709542]|not specified [RCV000241643] | benign | 19 | 50906915 | 50906915 | Human | | name |
| 150452338 | CV1276718 | single nucleotide variant | NM_004917.5(KLK4):c.61+28T>A | not provided [RCV001708507] | benign | 19 | 50910650 | 50910650 | Human | | name |
| 405710552 | CV3225708 | single nucleotide variant | NM_004917.5(KLK4):c.224+2T>C | Amelogenesis imperfecta type 2A1 [RCV003990766] | likely pathogenic | 19 | 50909250 | 50909250 | Human | 1 | name |
| 150430413 | CV1230867 | single nucleotide variant | NM_004917.5(KLK4):c.61+144C>T | not provided [RCV001641416] | benign | 19 | 50910534 | 50910534 | Human | | name |
| 150486847 | CV1237236 | single nucleotide variant | NM_004917.5(KLK4):c.612+50G>A | not provided [RCV001654084] | benign | 19 | 50908309 | 50908309 | Human | | name |
| 150477707 | CV1252054 | single nucleotide variant | NM_004917.5(KLK4):c.61+132C>G | not provided [RCV001672254] | benign | 19 | 50910546 | 50910546 | Human | | name |
| 150449643 | CV1260848 | single nucleotide variant | NM_004917.5(KLK4):c.62-169C>A | not provided [RCV001680517] | benign | 19 | 50909583 | 50909583 | Human | | name |
| 150448306 | CV1275521 | single nucleotide variant | NM_004917.5(KLK4):c.224+92C>G | not provided [RCV001707976] | benign | 19 | 50909160 | 50909160 | Human | | name |
| 150455767 | CV1278401 | single nucleotide variant | NM_004917.5(KLK4):c.613-56C>T | not provided [RCV001709016] | benign | 19 | 50907142 | 50907142 | Human | 1 | name |
| 150455767 | CV1278401 | single nucleotide variant | NM_004917.5(KLK4):c.613-56C>T | not provided [RCV001709016] | benign | 19 | 50907142 | 50907143 | Human | 1 | name |
| 150331700 | CV1163665 | deletion | NM_004917.5(KLK4):c.224+142del | not provided [RCV001527910] | benign | 19 | 50909110 | 50909110 | Human | | name |
| 150495860 | CV1225180 | single nucleotide variant | NM_004917.5(KLK4):c.612+286C>T | not provided [RCV001619658] | benign | 19 | 50908073 | 50908073 | Human | | name |
| 150468638 | CV1243028 | single nucleotide variant | NM_004917.5(KLK4):c.224+193T>C | not provided [RCV001650546] | benign | 19 | 50909059 | 50909059 | Human | | name |
| 150489188 | CV1250507 | single nucleotide variant | NM_004917.5(KLK4):c.613-129T>C | not provided [RCV001674470] | benign | 19 | 50907215 | 50907215 | Human | | name |
| 150458398 | CV1269629 | single nucleotide variant | NM_004917.5(KLK4):c.612+227A>G | not provided [RCV001693169] | benign | 19 | 50908132 | 50908132 | Human | | name |
| 150495779 | CV1272717 | single nucleotide variant | NM_004917.5(KLK4):c.224+182G>C | not provided [RCV001688640] | benign | 19 | 50909070 | 50909070 | Human | | name |
| 11545339 | CV257199 | single nucleotide variant | NM_004917.5(KLK4):c.591= (p.Gln197=) | not provided [RCV001618435]|not specified [RCV000245001] | benign | 19 | 50908380 | 50908380 | Human | | name |
| 11549087 | CV257200 | single nucleotide variant | NM_004917.5(KLK4):c.66G>T (p.Ser22=) | not provided [RCV001610654]|not specified [RCV000249960] | benign | 19 | 50909410 | 50909410 | Human | | name |
| 405284785 | CV3190841 | single nucleotide variant | NM_004917.5(KLK4):c.39G>T (p.Gly13=) | KLK4-related disorder [RCV003909407] | likely benign | 19 | 50910700 | 50910700 | Human | | name , trait , alternate_id |
| 15107546 | CV716633 | single nucleotide variant | NM_004917.5(KLK4):c.297C>A (p.Ala99=) | not provided [RCV000960311] | benign | 19 | 50908757 | 50908757 | Human | 1 | name |
| 15107546 | CV716633 | single nucleotide variant | NM_004917.5(KLK4):c.297C>A (p.Ala99=) | not provided [RCV000960311] | benign | 19 | 50908757 | 50908758 | Human | 1 | name |
| 150471096 | CV1248150 | single nucleotide variant | NM_004917.5(KLK4):c.64T>G (p.Ser22Ala) | not provided [RCV001671187] | benign | 19 | 50909412 | 50909412 | Human | | name |
| 10042286 | CV187180 | deletion | NM_004917.5(KLK4):c.245del (p.Gly82fs) | Amelogenesis imperfecta type 2A1 [RCV000169728] | pathogenic|not provided | 19 | 50908809 | 50908809 | Human | 1 | name |
| 156074437 | CV2281441 | single nucleotide variant | NM_004917.5(KLK4):c.65C>G (p.Ser22Trp) | Inborn genetic diseases [RCV002868891] | uncertain significance | 19 | 50909411 | 50909411 | Human | 1 | name |
| 401910717 | CV2818691 | single nucleotide variant | NM_004917.5(KLK4):c.756G>A (p.Gln252=) | KLK4-related disorder [RCV003946583]|not provided [RCV003425386] | likely benign | 19 | 50906943 | 50906943 | Human | 1 | name , trait , alternate_id |
| 15128392 | CV716632 | single nucleotide variant | NM_004917.5(KLK4):c.300C>T (p.Ser100=) | not provided [RCV000964076] | benign | 19 | 50908754 | 50908754 | Human | | name |
| 153000907 | CV1318202 | single nucleotide variant | NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) | Amelogenesis imperfecta [RCV002254673] | pathogenic | 19 | 50909306 | 50909306 | Human | 2 | name |
| 155930919 | CV2361287 | single nucleotide variant | NM_004917.5(KLK4):c.253A>G (p.Ser85Gly) | Inborn genetic diseases [RCV002684156] | uncertain significance | 19 | 50908801 | 50908801 | Human | 1 | name |
| 11582141 | CV272347 | deletion | NM_004917.5(KLK4):c.632del (p.Leu211fs) | Amelogenesis imperfecta type 2A1 [RCV000399535]|not provided [RCV000726118] | pathogenic | 19 | 50907067 | 50907067 | Human | 1 | name |
| 401894580 | CV2788136 | single nucleotide variant | NM_004917.5(KLK4):c.120C>G (p.His40Gln) | Inborn genetic diseases [RCV003371542] | uncertain significance | 19 | 50909356 | 50909356 | Human | 1 | name |
| 598183137 | CV3983842 | single nucleotide variant | NM_004917.5(KLK4):c.295G>A (p.Ala99Thr) | Inborn genetic diseases [RCV005352848] | uncertain significance | 19 | 50908759 | 50908759 | Human | 1 | name |
| 153000906 | CV1318201 | single nucleotide variant | NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) | Amelogenesis imperfecta [RCV002254672] | pathogenic | 19 | 50907062 | 50907062 | Human | 2 | name |
| 8597022 | CV21118 | single nucleotide variant | NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) | Amelogenesis imperfecta type 2A1 [RCV000006452]|not provided [RCV004719629] | pathogenic|likely pathogenic | 19 | 50908596 | 50908596 | Human | 1 | name |
| 156164920 | CV2243412 | single nucleotide variant | NM_004917.5(KLK4):c.506A>G (p.Asn169Ser) | Inborn genetic diseases [RCV002787723] | uncertain significance | 19 | 50908465 | 50908465 | Human | 1 | name |
| 155987113 | CV2259437 | single nucleotide variant | NM_004917.5(KLK4):c.545A>G (p.Tyr182Cys) | Inborn genetic diseases [RCV002793358] | uncertain significance | 19 | 50908426 | 50908426 | Human | 1 | name |
| 156019733 | CV2272684 | single nucleotide variant | NM_004917.5(KLK4):c.581G>A (p.Gly194Asp) | Inborn genetic diseases [RCV002844502] | uncertain significance | 19 | 50908390 | 50908390 | Human | 1 | name |
| 156396685 | CV2330211 | single nucleotide variant | NM_004917.5(KLK4):c.443G>A (p.Cys148Tyr) | Inborn genetic diseases [RCV002945043] | uncertain significance | 19 | 50908611 | 50908611 | Human | 1 | name |
| 156104157 | CV2386948 | single nucleotide variant | NM_004917.5(KLK4):c.485C>T (p.Pro162Leu) | Inborn genetic diseases [RCV002739294] | uncertain significance | 19 | 50908486 | 50908486 | Human | 1 | name |
| 243055454 | CV2419318 | single nucleotide variant | NM_004917.5(KLK4):c.443G>T (p.Cys148Phe) | Amelogenesis imperfecta type 2A1 [RCV003155003] | uncertain significance | 19 | 50908611 | 50908611 | Human | 1 | name |
| 401759933 | CV2698679 | single nucleotide variant | NM_004917.5(KLK4):c.474C>G (p.Asn158Lys) | Inborn genetic diseases [RCV003280332] | uncertain significance | 19 | 50908580 | 50908580 | Human | 1 | name |
| 401725289 | CV2726100 | single nucleotide variant | NM_004917.5(KLK4):c.412G>T (p.Ala138Ser) | Inborn genetic diseases [RCV003268914] | uncertain significance | 19 | 50908642 | 50908642 | Human | 1 | name |
| 405814073 | CV3276417 | single nucleotide variant | NM_004917.5(KLK4):c.641A>G (p.Asn214Ser) | Inborn genetic diseases [RCV004409653] | uncertain significance | 19 | 50907058 | 50907058 | Human | 1 | name |
| 597686112 | CV3700905 | single nucleotide variant | NM_004917.5(KLK4):c.583G>C (p.Gly195Arg) | Inborn genetic diseases [RCV004984095] | uncertain significance | 19 | 50908388 | 50908388 | Human | 1 | name |
| 597686121 | CV3700906 | single nucleotide variant | NM_004917.5(KLK4):c.741A>G (p.Ile247Met) | Inborn genetic diseases [RCV004984096] | uncertain significance | 19 | 50906958 | 50906958 | Human | 1 | name |
| 597686128 | CV3700907 | single nucleotide variant | NM_004917.5(KLK4):c.596A>C (p.Gln199Pro) | Inborn genetic diseases [RCV004984097] | uncertain significance | 19 | 50908375 | 50908375 | Human | 1 | name |
| 598161926 | CV3983841 | single nucleotide variant | NM_004917.5(KLK4):c.341C>T (p.Ala114Val) | Inborn genetic diseases [RCV005368533] | uncertain significance | 19 | 50908713 | 50908713 | Human | 1 | name |
| 15187162 | CV728371 | single nucleotide variant | NM_004917.5(KLK4):c.476G>A (p.Gly159Asp) | not provided [RCV000887179] | benign | 19 | 50908495 | 50908495 | Human | | name |
| 8636950 | CV92175 | single nucleotide variant | NM_004917.4(KLK4):c.475G>A (p.Gly159Ser) | Malignant melanoma [RCV000072273] | not provided | 19 | 50908579 | 50908579 | Human | | name |
| 40887872 | CV966137 | single nucleotide variant | NM_004917.5(KLK4):c.680C>T (p.Pro227Leu) | Inborn genetic diseases [RCV001267428]|Male infertility [RCV001283740]|not provided [RCV004692359] | uncertain significance | 19 | 50907019 | 50907019 | Human | 4 | name |
| 40887872 | CV966137 | single nucleotide variant | NM_004917.5(KLK4):c.680C>T (p.Pro227Leu) | Inborn genetic diseases [RCV001267428]|Male infertility [RCV001283740]|not provided [RCV004692359] | uncertain significance | 19 | 50907019 | 50907020 | Human | 4 | name |
| 40887874 | CV974178 | single nucleotide variant | NM_004917.5(KLK4):c.697G>A (p.Val233Met) | Inborn genetic diseases [RCV001267429]|KLK4-related disorder [RCV003928807] | likely benign|uncertain significance | 19 | 50907002 | 50907002 | Human | 3 | name , trait , alternate_id |
| 40887874 | CV974178 | single nucleotide variant | NM_004917.5(KLK4):c.697G>A (p.Val233Met) | Inborn genetic diseases [RCV001267429]|KLK4-related disorder [RCV003928807] | likely benign|uncertain significance | 19 | 50907002 | 50907003 | Human | 3 | name , trait , alternate_id |
| 150520273 | CV1289213 | microsatellite | NM_004917.5(KLK4):c.620_621del (p.Ser207fs) | Amelogenesis imperfecta type 2A1 [RCV001728053] | likely pathogenic | 19 | 50907078 | 50907079 | Human | | name |